ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2957dupA (p.Asn986Lysfs) (rs80359365)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213454 SCV000274222 pathogenic Hereditary cancer-predisposing syndrome 2017-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077700 SCV000146148 pathogenic Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing
Color RCV000213454 SCV000683515 pathogenic Hereditary cancer-predisposing syndrome 2016-10-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077700 SCV000326792 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044094 SCV000591839 pathogenic Hereditary breast and ovarian cancer syndrome 2013-06-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077700 SCV000300575 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000160274 SCV000210727 pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.2957dupA at the cDNA level and p.Asn986LysfsX2 (N986KfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GAAAAAA[dupA]TAAT. The duplication causes a frameshift, which changes an Asparagine to a Lysine at codon 986, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.2957dupA, previously reported as 3185insA, has been reported as deleterious in association with breast and/or ovarian cancer (van der Hout 2006, Tea 2014, Finch 2015). We consider this variant to be pathogenic.
Invitae RCV000044094 SCV000072107 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 986 (p.Asn986Lysfs*2) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with personal or family history of breast or ovarian cancer (PMID: 16683254, 24156927, 26219728). ClinVar contains an entry for this variant (Variation ID: 51378). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000160274 SCV000600537 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044094 SCV000587649 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077700 SCV000109503 pathogenic Breast-ovarian cancer, familial 2 2011-02-25 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.